Paralogue Annotation for RYR1 residue 104

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 104
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 104

No paralogue variants have been mapped to residue 104 for RYR1.

RYR1	EAG--V---E-------SSQGGGHRTLLYG>H<AILLRHAHSRMYLSCLTTSRSMTDKLAFDV	134
RYR2	EKSEGQVDVEKWKFMMKTAQGGGHRTLLYG>H<AILLRHSYSGMYLCCLSTSRSSTDKLAFDV	147
RYR3	ENG-GE---G-------AAQGGGHRTLLYG>H<AVLLRHSFSGMYLTCLTTSRSQTDKLAFDV	137
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H104R	c.311A>G	Putative Benign			SIFT: Polyphen: